First goal of the study is to phenotype patiens with hypergonadotropic ovarian dysfunction (WHO III) adequately. This group includes women with premature ovarian failure (POF), incipient ovarian failure (IOF), poor response after ovarian hyperstimulation, early menopause and hypergonadotropic primary amenorrhea. The standardized phenotyping consists of a questionnaire focusing on reproductive, medical, and family history; ultrasonography to assess ovarian reserve and/or antral follicle count and obtaining an extra blood sampling during routine endocrine screening for genotyping.

Phenotyping of patients presenting with ovarian dysfunction is of crucial importance when genotyping will be performed. The goal of this genotyping will be the identification of genetic factors associated with the (premature) depletion of the stock of ovarian follicles. It will be performed for isolated WHO III patients in an association (case-control) study for known candidate genes. In familial WHO III cases, genome wide linkage analysis will be performed.

Eligibility

Ages Eligible for Study:

12 Years and older

Genders Eligible for Study:

Female

Accepts Healthy Volunteers:

No

Sampling Method:

Non-Probability Sample

Study Population

Women with WHO III status who attend the outpatient clinic of participating hospitals.

Criteria

Inclusion Criteria:

POF; defined as secondary amenorrhea before 40 years of age and basal FSH > 40 IU/L

Poor response patients; defined as less than 4 oocytes retrieved or cancellation in case of absent follicle growth after ovarian hyperstimulation with 300 IU gonadotropins or cancellation in case of absent follicle growth

Women with early menopause (between 40-45 years)

Hypergonadotropic primary amenorrhea

Exclusion Criteria:

Primary amenorrhea with early development disorders causing absence of ovaries and Swyer syndrome (XY)

Contacts and Locations

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To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below.
For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01411644